ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2022
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 17 citations in OpenAlex.
- Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- A clathrin mediated endocytosis scaffolding protein, Intersectin 1, changes in an isoform, brain region, and sex specific manner in Alzheimer's disease.Frontiers in neuroscience · 2024Article
- Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer.Genes · 2023Article
- Expression of the primate-specific LINC00473 RNA in mouse neurons promotes excitability and CREB-regulated transcription.The Journal of biological chemistry · 2023Article
- High-Risk Pedigree Study IdentifiesCancers · 2023Article
- Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Are Alzheimer's and coronary artery diseases genetically related to longevity?Frontiers in psychiatry · 2022Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
introductionAnalysis of sequence data in high-risk pedigrees is a powerful approach to detect rare predisposition variants.
methodsRare, shared candidate predisposition variants were identified from exome sequencing 19 Alzheimer's disease (AD)-affected cousin pairs selected from high-risk pedigrees. Variants were further prioritized by risk association in various external datasets. Candidate variants emerging from these analyses were tested for co-segregation to additional affected relatives of the original sequenced pedigree members.
resultsAD-affected high-risk cousin pairs contained 564 shared rare variants. Eleven variants spanning 10 genes were prioritized in external datasets: rs201665195 (ABCA7), and rs28933981 (TTR) were previously implicated in AD pathology; rs141402160 (NOTCH3) and rs140914494 (NOTCH3) were previously reported; rs200290640 (PIDD1) and rs199752248 (PIDD1) were present in more than one cousin pair; rs61729902 (SNAP91), rs140129800 (COX6A2, AC026471), and rs191804178 (MUC16) were not present in a longevity cohort; and rs148294193 (PELI3) and rs147599881 (FCHO1) approached significance from analysis of AD-related phenotypes. Three variants were validated via evidence of co-segregation to additional relatives (PELI3, ABCA7, and SNAP91). DISCUSSION: These analyses support ABCA7 and TTR as AD risk genes, expand on previously reported NOTCH3 variant identification, and prioritize seven additional candidate variants.
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